The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China

Genetic diseases exhibit significant clinical and genetic diversity, leading to a complex and challenging diagnostic process. Exploiting novel approaches is imperative for the molecular diagnosis of genetic diseases. In this study, we utilized whole-exome sequencing (WES) to facilitate early diagnos...

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Bibliographic Details
Published in:Frontiers in pediatrics 2024-10, Vol.12, p.1448895
Main Authors: Lai, Guihua, Gu, Qiying, Lai, Zhiyong, Chen, Haijun, Chen, Junkun, Huang, Jungao
Format: Article
Language:English
Subjects:
children
genetic diagnosis
genetic diseases
Pediatrics
rare disease
whole-exome sequencing
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Summary:Genetic diseases exhibit significant clinical and genetic diversity, leading to a complex and challenging diagnostic process. Exploiting novel approaches is imperative for the molecular diagnosis of genetic diseases. In this study, we utilized whole-exome sequencing (WES) to facilitate early diagnosis in patients suspected of genetic disorders. This retrospective analysis included 144 patients diagnosed by singleton-WES Trio-WES between January 2021 and December 2023. We investigated the relevance of diagnosis rates with age, clinical presentation, and sample type. Among the 144 patients, 61 were diagnosed, yielding an overall diagnostic rate of 42.36%, with Trio-WES demonstrating a significantly higher diagnostic rate of 51.43% (36/70) compared to singleton-WES at 33.78% (25/74) (  
ISSN:2296-2360
2296-2360
DOI:10.3389/fped.2024.1448895